Canonical Allele Identifier: CA942929159

Gene: SC5D

Linked Data

• dbSNP Id: rs1947938336
• gnomAD v3: 11-121303312-TG-T
• gnomAD v4: 11-121303312-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303313del , CM000673.2:g.121303313del	GRCh38
NC_000011.9:g.121174022del , CM000673.1:g.121174022del	GRCh37
NC_000011.8:g.120679232del	NCBI36
NG_009446.1:g.15635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.-10-53del MANE Select	ENSP00000264027.4:n.-10-53del
ENST00000264027.8:c.-10-53del	ENSP00000264027.4:n.-10-53del
ENST00000392789.2:c.-10-53del	ENSP00000376539.2:n.-10-53del
ENST00000524683.5:n.47-53del
ENST00000527762.5:c.-10-53del	ENSP00000436290.1:n.-10-53del
ENST00000531140.1:n.59-53del
ENST00000534230.5:c.-10-53del	ENSP00000432550.1:n.-10-53del
ENST00000534455.5:n.137-53del
NM_001024956.2:c.-10-53del	NP_001020127.1:n.-10-53del
NM_006918.4:c.-10-53del	NP_008849.2:n.-10-53del
NM_006918.5:c.-10-53del MANE Select	NP_008849.2:n.-10-53del
NM_001024956.3:c.-10-53del	NP_001020127.1:n.-10-53del